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{{Glycogen storage disease type II}}
{{Glycogen storage disease type II}}
{{CMG}}
{{CMG}}; {{AE}} {{Anmol}}
 
==Overview==
==Overview==
Patients with glycogen storage disease type 2 (GSD type 2) may have a positive history of GSD type 2 in family members, [[Developmental delays|delay in developmental milestones]], [[infant]] slips through when grasped under the arms, [[respiratory]] difficulties, frequent [[respiratory infections]], and [[cardiac]] symptoms. Most common symptoms of infantile onset glycogen storage disease type 2 include [[hypotonia]] and [[muscle weakness]]. Most common symptoms of late onset glycogen storage disease type 2 include progressive [[muscle weakness]], [[swallowing difficulties]], ans [[respiratory]] problems.
==History and Symptoms==
==History and Symptoms==
*Infantile onset- Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the [[tongue]] may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.
===History===
Patients with glycogen storage disease type 2 (GSD type 2) may have a positive history of:<ref name="pmid16133732">{{cite journal| author=Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ et al.| title=The natural course of non-classic Pompe's disease; a review of 225 published cases. | journal=J Neurol | year= 2005 | volume= 252 | issue= 8 | pages= 875-84 | pmid=16133732 | doi=10.1007/s00415-005-0922-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16133732  }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*GSD type 2 in family members
*[[Developmental delay|Developmental delay in milestones]]
*[[Infant]] slips through when grasped under the arms
*[[Respiratory]] difficulties
*Frequent [[respiratory infections]]
*[[Cardiac]] symptoms
 
===Infantile Onset Glycogen Storage Disease Type II===
====Common Symptoms====
Common symptoms of infantile onset glycogen storage disease type II include:<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283  }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*[[Hypotonia]]
*[[Muscular weakness]]
*Motor retardation
*Paucity of movements
*Laxity of [[facial muscles]]
*[[Respiratory distress]]
*[[Feeding difficulties]]
*[[Failure to thrive]]
*Cardiac symptoms due to [[cardiomegaly]] and [[cardiomyopathy]]
 
====Less Common Symptoms====
Less common symptoms of infantile onset glycogen storage disease type 2 include:<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283  }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*[[Areflexia]] (in late stages of disease)
*[[Malaise]]
*Sweatiness
*[[Fatigue]]
*[[Irritability]]
*Weak cry
*[[Constipation]]
*[[Vomiting]]
*[[Gastroesophageal reflux]]
*[[Sleep apnea]]
*[[Spasm]]
*[[Tremor]]


*Juvenile onset- Symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, [[diaphragm (anatomy)|diaphragm]] and lower limbs, as well as [[exercise intolerance]]. Intelligence is normal.
===Late Onset Glycogen Storage Disease Type II===
====Common Symptoms====
Common symptoms of late onset glycogen storage disease type II include:<ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*Progressive [[muscular weakness]] (all patients)
**Predominantly proximal
**Lower limbs affected more than upper
**Involvement of paraspinal muscles (older children)
**[[Hypotonia]]
**Decreased [[Deep tendon reflex|deep tendon reflexes]]
*[[Swallowing difficulty]]
*Respiratory problems
**Frequent [[respiratory infections]]
**[[Respiratory failure|Respiratory insufficiency or failure]]
**[[Exertional dyspnea]]
**[[Obstructive sleep apnea]]
**[[Orthopnea]]
**[[Exercise intolerance]]
 
====Less Common Symptoms====
Less common symptoms of late onset glycogen storage disease type 2 include:<ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982  }} </ref>
*[[Cardiac]] problems
*[[Macroglossia]]
*Morning [[headache]]
*[[Somnolence]]
*Lower [[back pain]]
*Decreased [[Deep tendon reflex|deep tendon reflexes]]
*[[Lordosis]], [[kyphosis]], and/or [[scoliosis]]


*Adult onset- Symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations.
==References==
==References==
{{reflist|2}}
{{reflist|2}}
{{WH}}
{{WS}}
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Lysosomal storage diseases]]
[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Inborn errors of metabolism]]
[[Category:Metabolic disorders]]
 
 
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Latest revision as of 19:44, 23 January 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Patients with glycogen storage disease type 2 (GSD type 2) may have a positive history of GSD type 2 in family members, delay in developmental milestones, infant slips through when grasped under the arms, respiratory difficulties, frequent respiratory infections, and cardiac symptoms. Most common symptoms of infantile onset glycogen storage disease type 2 include hypotonia and muscle weakness. Most common symptoms of late onset glycogen storage disease type 2 include progressive muscle weakness, swallowing difficulties, ans respiratory problems.

History and Symptoms

History

Patients with glycogen storage disease type 2 (GSD type 2) may have a positive history of:[1][2]

Infantile Onset Glycogen Storage Disease Type II

Common Symptoms

Common symptoms of infantile onset glycogen storage disease type II include:[3][4][2]

Less Common Symptoms

Less common symptoms of infantile onset glycogen storage disease type 2 include:[3][4][2]

Late Onset Glycogen Storage Disease Type II

Common Symptoms

Common symptoms of late onset glycogen storage disease type II include:[2]

Less Common Symptoms

Less common symptoms of late onset glycogen storage disease type 2 include:[2]

References

  1. ↑ Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ; et al. (2005). "The natural course of non-classic Pompe's disease; a review of 225 published cases". J Neurol. 252 (8): 875–84. doi:10.1007/s00415-005-0922-9. PMID 16133732.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 Kishnani PS, Howell RR (2004). "Pompe disease in infants and children". J Pediatr. 144 (5 Suppl): S35–43. doi:10.1016/j.jpeds.2004.01.053. PMID 15126982.
  3. ↑ 3.0 3.1 Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.
  4. ↑ 4.0 4.1 van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.


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